Wu F F, Wang T R, Chen C F, Lin M H, Hung C S, Kau H P, Yang K H
Department of Pediatrics, Taipei Municipal Women's and Children's Hospital, Taiwan, R.O.C.
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1990 Jul-Aug;31(4):242-8.
A newborn with ambiguous external genitalia and the stigmata of Turner syndrome presented with the following features: short stature, hypertelorism, bilateral epicanthal folds, ptosis, low-set ears with prominent auricles, high-arched palate, low posterior hairline, webbed neck, broad and short chest, widely-spaced and hypoplastic nipples and clitoris-like phallus with hypospasdias. He also had patent ductus arteriosus, the secundum type of atrial septal defect and mitral stenosis. Chromosomes of peripheral blood showed mosaicism of cells with 45,XO/46,XY. An exploratory laparotomy was performed at five months of age. The right side ovotestis-like gonad was removed. The left side gonad in the scrotum was normal. No pathological gonadoblastoma was found.
